ClinVar Miner

Submissions for variant NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)

gnomAD frequency: 0.00704  dbSNP: rs115611153
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245769 SCV000314024 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000986766 SCV000630384 benign Welander distal myopathy 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000986766 SCV001135883 likely benign Welander distal myopathy 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001573472 SCV002504297 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV001573472 SCV002822661 benign not provided 2024-03-01 criteria provided, single submitter clinical testing TIA1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573472 SCV001799398 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245769 SCV001974552 benign not specified no assertion criteria provided clinical testing

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